{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2042901019",
  "communityStandardTitle": [
    "NM_007199.3(IRAK3):c.316+28C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1882200",
        "rs": 1882200
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 66203921,
          "referenceAllele": "C",
          "start": 66203920
        }
      ],
      "hgvs": [
        "NC_000012.12:g.66203921C=",
        "CM000674.2:g.66203921C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 66597701,
          "referenceAllele": "C",
          "start": 66597700
        }
      ],
      "hgvs": [
        "NC_000012.11:g.66597701C=",
        "CM000674.1:g.66597701C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 64883968,
          "referenceAllele": "C",
          "start": 64883967
        }
      ],
      "hgvs": [
        "NC_000012.10:g.64883968C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19724,
          "referenceAllele": "C",
          "start": 19723
        }
      ],
      "hgvs": [
        "NG_021194.1:g.19724C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "ENST00000261233.9:c.316+28C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261233.4:n.316+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261233.9:c.316+28C="
          },
          "RefSeq": {
            "hgvs": "NM_007199.3:c.316+28C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261233.4:n.316+28C="
          },
          "RefSeq": {
            "hgvs": "NP_009130.2:n.316+28C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 737,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "ENST00000261233.8:c.316+28C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261233.4:n.316+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176,
          "endIntronDirection": "-",
          "endIntronOffset": 5534,
          "referenceAllele": "C",
          "start": 176,
          "startIntronDirection": "-",
          "startIntronOffset": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "ENST00000457197.2:c.134-5535C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409852.2:n.134-5535C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "endIntronDirection": "-",
          "endIntronOffset": 5534,
          "referenceAllele": "C",
          "start": 235,
          "startIntronDirection": "-",
          "startIntronOffset": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "NM_001142523.1:c.134-5535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135995.1:n.134-5535C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "NM_007199.2:c.316+28C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009130.2:n.316+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 5534,
          "referenceAllele": "C",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "NM_001142523.2:c.134-5535C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135995.1:n.134-5535C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017020",
      "geneNCBI_id": 11213,
      "geneSymbol": "IRAK3",
      "hgvs": [
        "NM_007199.3:c.316+28C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009130.2:n.316+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696938",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261233.9:c.316+28C="
          },
          "RefSeq": {
            "hgvs": "NM_007199.3:c.316+28C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261233.4:n.316+28C="
          },
          "RefSeq": {
            "hgvs": "NP_009130.2:n.316+28C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}